rs199476100
From SNPedia
| Polycystic Kidney disease |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3 | Likely miscall if from Ancestry data; otherwise, polycystic kidney disease mutation(s) |
| (C;T) | 5 | Polycystic Kidney Disease (predicted) |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 2114489 |
| Gene | PKD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199476100 |
| dbSNP (classic) | rs199476100 |
| ClinGen | rs199476100 |
| ebi | rs199476100 |
| HLI | rs199476100 |
| Exac | rs199476100 |
| Gnomad | rs199476100 |
| Varsome | rs199476100 |
| LitVar | rs199476100 |
| Map | rs199476100 |
| PheGenI | rs199476100 |
| Biobank | rs199476100 |
| 1000 genomes | rs199476100 |
| hgdp | rs199476100 |
| ensembl | rs199476100 |
| geneview | rs199476100 |
| scholar | rs199476100 |
| rs199476100 | |
| pharmgkb | rs199476100 |
| gwascentral | rs199476100 |
| openSNP | rs199476100 |
| 23andMe | rs199476100 |
| SNPshot | rs199476100 |
| SNPdbe | rs199476100 |
| MSV3d | rs199476100 |
| GWAS Ctlg | rs199476100 |
| Max Magnitude | 5 |
Polycystic Kidney disease; see OMIM 601313.0012
NM_001009944.2:c.2534T>C
The variant allele of this SNP is considered either "definitely pathogenic" or "highly likely pathogenic" for autosomal dominant polycystic kidney disease in the PKD Foundation database.
| ClinVar | |
|---|---|
| Risk | Rs199476100(C;C) |
| Alt | Rs199476100(C;C) |
| Reference | Rs199476100(T;T) |
| Significance | Pathogenic |
| Disease | Polycystic kidney disease |
| Variation | info |
| Gene | PKD1 |
| CLNDBN | Polycystic kidney disease, adult type |
| Reversed | 1 |
| HGVS | NC_000016.9:g.2164490A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008689.4, |
